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NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Mar 17, 2017
Accession:
VCV000053238.3
Variation ID:
53238
Description:
single nucleotide variant
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NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)

Allele ID
67906
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117504336 (GRCh38) GRCh38 UCSC
7: 117144390 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117144390C>A
NC_000007.14:g.117504336C>A
NG_016465.4:g.43553C>A
... more HGVS
Protein change
A46D
Other names
-
Canonical SPDI
NC_000007.14:117504335:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
-
Links
ClinGen: CA326462
dbSNP: rs151020603
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 reviewed by expert panel Mar 17, 2017 RCV000046286.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1972 2727

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 17, 2017)
reviewed by expert panel
Method: research
Cystic fibrosis
Allele origin: germline
CFTR2
Study: CFTR2
Accession: SCV000245899.2
Submitted: (Jun 29, 2017)
Evidence details
Other databases
https://cftr2.org
Likely pathogenic
(May 17, 2018)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000800012.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (4)
Pathogenic
(Jan 29, 2018)
criteria provided, single submitter
Method: curation
cystic fibrosis
Allele origin: germline
CFTR-France
Accession: SCV001169479.1
Submitted: (Sep 16, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Cystic Fibrosis
Allele origin: germline
Natera, Inc.
Accession: SCV001464069.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Claustres M Human mutation 2017 PMID: 28603918
CT-abnormalities, bacteriology and symptoms of sinonasal disease in children with Cystic Fibrosis. Berkhout MC Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 PMID: 27049043
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. Van Goor F Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2014 PMID: 23891399
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. Kanavakis E Clinical genetics 2003 PMID: 12752573
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Kilinç MO American journal of medical genetics 2002 PMID: 12439892
https://cftr2.org - - - -

Text-mined citations for rs151020603...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021